UIC studies autism, "insistence on sameness" connection

From the Chicago Tribune:

As a kid, Alec Kedziora (pictured) was a picky eater, refusing anything new and subsisting on a self-selected diet heavy on Cheerios, Chex Mix and bacon. He insisted that all doors in the house be kept closed. His morning activities were identical every day and timed perfectly. If he overslept by even a few minutes he was late for school.

Alec was diagnosed with autism when he was 3, and his rigid routine is common among people with the disorder. Though he was an affectionate, sweet kid, if something went awry he often threw a fit and sometimes banged his head against a desk or wall.

Two years ago, as a freshman in high school, things took a turn for the worse. His frustration turned aggressive and he started getting in fights. His parents, Joe and NiCole Kedziora of Orland Park, were horrified. Alec realized he was acting badly and would apologize to his parents. "I was suffering," he said recently. "I was sad about it."

Hoping to provide relief to people like Alec and to solve a piece of the autism puzzle, a team of researchers at the University of Illinois at Chicago is looking at the relationship between the brain chemical serotonin and the trait known in the field as "insistence on sameness."

With the help of a five-year, $9.6 million federal grant, the team is using a combination of genetics, medication and brain scans to explore possible mechanisms behind this craving for routine. Alec was enrolled by his parents.

There's no single pattern to autism spectrum disorders, which affect perhaps 1 in 150 children. Some with autism repeat phrases over and over. Some barely interact with anyone. Others are outgoing, but their lack of social skills can sabotage their efforts to make friends. Up to a quarter have insistence on sameness, said geneticist Ed Cook, director of autism and genetics in UIC's psychiatry department.

The differences make autism a challenging condition to study and to treat.

"Autism is too big as a whole to attack," said John Sweeney, director of UIC's Center for Cognitive Medicine and the group's brain imaging specialist. "We have to go through the brain bit by bit to find out what's working and what's not. Get the bricks sorted out, and then build the house."

Having to take the same route to school each day to keep a kid calm may not seem like a big deal. But not doing it can trigger distress, and that can lead to anxiety or aggression. Cook said he knows parents who can track the severity of their child's symptoms by the amount of trashed drywall in the house.

Treating that rigidity has a huge payoff. "They still have autism, but they feel better," Cook said. "And everybody else feels better."

Each participant in the study gets blood drawn for genetic tests, including an analysis of the genes related to serotonin, a neurotransmitter that is part of the brain's system for modulating mood and emotion. Participants' families are asked to donate blood samples so researchers can look for hereditary links. All the blood Cook collects from participants -- he's hoping for more than 250 -- will be shared with a national autism database for other researchers to use.

Participants with a high level of insistence on sameness are referred to the group's pharmacologist, Tom Owley. The outgoing head of UIC's Neurodevelopmental Psychopharmacology Clinic, Owley conducted a preliminary study two years ago on the antidepressant Lexapro, which affects serotonin levels. Sixty-five percent of participants who took the drug were helped, according to results of a detailed questionnaire completed by their parents.

He's hoping this new study backs up those results and that combining the Lexapro research with the genetics and brain scans will help the team understand why the drug may not help some patients. Eventually, he hopes, the research could lead to medications targeted for people with specific autism symptoms.

This month, researchers in another large federal study reported that an antidepressant similar to Lexapro was no more effective than a placebo in reducing repetitive behavior, which seems to contradict UIC's initial results. Cook said the studies are looking at slightly different things.

The UIC study is focused only on repetitive behaviors that cause the participant distress -- like the breaks in routine that caused Alec to bang his head on a wall or start a fight. The other study measured all repetitive behaviors, whether they were upsetting the subject or not. Cook said he agrees that antidepressants don't appear to help reduce repetitive behaviors that a person is not hoping to shed, such as a compulsion to order things in a particular way.

In the Chicago project, people taking Lexapro undergo brain scans that record activity in key areas as the participants perform different mental exercises, both before they begin the medication and several months later. The results will be contrasted with those from a group of participants with low insistence on sameness.

The researchers eventually will have a data set that overlaps all this information -- the genetics, the medication results, the scans.

So far, 93 people have participated in the study, nine of whom were put on Lexapro. The researchers are looking in particular for more teenagers and young adults.

Alec, now 17, has been on Lexapro for a year and a half -- he continued to take it even after his time in the study ended. He and his family said the drug made an immediate difference. His family said he's able to vary his routine.